Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India

An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with the loss of appetite and nausea lasting for 3–4 days every 4–6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffered any paroxysmal attack of the kind. Work up for acute intermittent porphyria, lead poisoning, and familial Mediterranean fever was negative. A novel harmful sequence change in the NLRP12 gene was detected, and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change within the NLRP12 gene causing disease has not yet been reported in the literature and is the first such a case reported from India.